Variant report

Variant	rs9968669
Chromosome Location	chr5:42592649-42592650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11948453	0.91[ASN][1000 genomes]
rs12515372	1.00[AFR][1000 genomes]
rs12520276	1.00[AFR][1000 genomes]
rs13173465	0.88[ASN][1000 genomes]
rs28943879	1.00[AFR][1000 genomes]
rs4075783	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4242115	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4305645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4314405	1.00[AFR][1000 genomes]
rs4484445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4489074	1.00[AFR][1000 genomes]
rs4533898	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4554233	0.91[ASN][1000 genomes]
rs4866791	0.92[ASN][1000 genomes]
rs6451626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6887718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7721816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42591000-42592800	Enhancers	Fetal Heart	heart
2	chr5:42591200-42593000	Weak transcription	Liver	Liver
3	chr5:42591600-42593200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:42591600-42593400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:42591600-42593600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:42591600-42593600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:42591800-42593600	Enhancers	HSMMtube	muscle
8	chr5:42591800-42597600	Weak transcription	K562	blood
9	chr5:42592000-42593600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:42592000-42596800	Weak transcription	Right Atrium	heart
11	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
12	chr5:42592200-42593600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:42592200-42593600	Weak transcription	Spleen	Spleen
14	chr5:42592200-42593800	Weak transcription	Fetal Lung	lung
15	chr5:42592200-42595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:42592200-42595800	Weak transcription	Left Ventricle	heart
17	chr5:42592200-42595800	Weak transcription	Psoas Muscle	Psoas
18	chr5:42592200-42600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:42592200-42605800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:42592400-42593400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:42592400-42593400	Weak transcription	HSMM	muscle
22	chr5:42592400-42595200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:42592400-42595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:42592400-42595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:42592400-42595800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:42592400-42595800	Weak transcription	Right Ventricle	heart
27	chr5:42592400-42595800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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